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. 2014 May;28(3):178-85.
doi: 10.1002/jcla.21663. Epub 2014 Jan 6.

Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil

Gioconda Dias Rodrigues Leão  1 , Juliana Mendonça Freire, Andrea Luciana Araújo Cunha Fernandes, Taissa Maria Moura de Oliveira, Nilma Dias Leão, Erica Aires Gil, Roberto Chaves de Vasconcelos, João Paulo da Silva Azevedo, Valéria Soraya de Farias Sales, Telma Maria de Araújo Moura Lemos, Marcos Dias Leão, Francisco Fernandes do Nascimento Jr, James Farley Rafael Maciel, Rodrigo Villar de Freitas, Aldair de Souza Paiva, Geraldo Barroso Cavalcanti Jr
Affiliations

Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil

Gioconda Dias Rodrigues Leão et al. J Clin Lab Anal. 2014 May.

Abstract

Background: Hereditary hemochromatosis (HH) is a genetic disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders, and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this article is identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increase of serum ferritin in patients from Natal City from state of Rio Grande do Norte, located in northeastern Brazil.

Results: Of the 299 patients studied for C282Y and H63D, 48.49% showed absence of mutation and 51.51% showed some sort of mutation: heterozygous C282Y mutation in 4.35% patients, homozygous C282Y mutation in 2.67% patients, heterozygous H63D mutation in 31.44% patients, homozygous H63D mutation in 8.03% patients, and heterozygous for the mutation in both genes (C282Y/H63D) in 5.02% patients. The S65C mutation was studied in 112 patients and heterozygous mutation (S65D/WT) in 2.67% of patients and double mutation (H63D/S65C) in 1.78% of patients were observed.

Conclusion: Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.

Keywords: C282Y mutation; H63D mutation; S65C mutation; hereditary hemochromatosis; hyperferritinemia.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

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